ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2877A>G (p.Gln959=)

gnomAD frequency: 0.00001  dbSNP: rs562040179
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350596 SCV000463339 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861278 SCV002190306 likely benign Peroxisome biogenesis disorder 2024-05-29 criteria provided, single submitter clinical testing

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